Mutagenetix > Incidental Mutation

Incidental Mutation 'R1859:C4b'

204262

Institutional Source

Beutler Lab

Gene Symbol

C4b

Ensembl Gene

ENSMUSG00000073418

Gene Name

complement component 4B (Chido blood group)

Synonyms

C4, Ss

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1859 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34728380-34743882 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34735553 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 881 (M881L)

Ref Sequence

ENSEMBL: ENSMUSP00000069418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069507]

AlphaFold

P01029

Predicted Effect

probably benign
Transcript: ENSMUST00000069507
AA Change: M881L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000069418
Gene: ENSMUSG00000073418
AA Change: M881L

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:A2M_N	138	231	2e-19	PFAM
A2M_N_2	470	609	2.87e-26	SMART
ANATO	700	734	3.58e-12	SMART
low complexity region	761	771	N/A	INTRINSIC
A2M	779	867	1.46e-27	SMART
Pfam:Thiol-ester_cl	995	1024	7.7e-13	PFAM
Pfam:A2M_comp	1047	1313	1.3e-82	PFAM
low complexity region	1441	1447	N/A	INTRINSIC
A2M_recep	1475	1564	1.03e-36	SMART
C345C	1608	1720	5.69e-40	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173057

SMART Domains

Protein: ENSMUSP00000134611
Gene: ENSMUSG00000073418

Domain	Start	End	E-Value	Type
Pfam:A2M	1	62	6.5e-20	PFAM

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous C4 deficient mice have compromised immune responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	C	T	12: 110,670,834 (GRCm38)		probably benign	Het
9930021J03Rik	A	C	19: 29,754,923 (GRCm38)	C230G	possibly damaging	Het
Adcy10	A	G	1: 165,521,961 (GRCm38)	E467G	probably damaging	Het
Alkbh8	A	G	9: 3,385,499 (GRCm38)	D597G	probably benign	Het
Alpk1	T	A	3: 127,681,100 (GRCm38)	H418L	possibly damaging	Het
Ano5	G	T	7: 51,546,833 (GRCm38)	V138L	probably damaging	Het
Aspg	T	A	12: 112,121,172 (GRCm38)	I319K	possibly damaging	Het
Atp9b	T	C	18: 80,749,920 (GRCm38)	T970A	possibly damaging	Het
Cd209c	A	T	8: 3,944,953 (GRCm38)	N70K	probably benign	Het
Cdca5	T	C	19: 6,090,094 (GRCm38)	V95A	possibly damaging	Het
Cds2	A	G	2: 132,302,195 (GRCm38)	Y297C	probably damaging	Het
Celsr2	C	T	3: 108,396,630 (GRCm38)	G2371S	probably damaging	Het
Chd5	T	A	4: 152,380,523 (GRCm38)	I1557N	probably benign	Het
Cntn5	C	T	9: 9,972,834 (GRCm38)	E266K	probably damaging	Het
Crtam	G	A	9: 40,973,604 (GRCm38)	T363M	possibly damaging	Het
Dnah2	A	G	11: 69,437,886 (GRCm38)	S3298P	probably damaging	Het
Dok1	A	T	6: 83,032,245 (GRCm38)	Y209N	probably damaging	Het
Dpp10	T	C	1: 123,353,604 (GRCm38)	D561G	possibly damaging	Het
Drosha	A	G	15: 12,878,718 (GRCm38)	K710R	probably benign	Het
Dse	T	C	10: 34,153,229 (GRCm38)	T622A	probably benign	Het
Ercc6	T	C	14: 32,526,778 (GRCm38)	S429P	probably damaging	Het
Fam135a	A	T	1: 24,030,225 (GRCm38)	V521E	probably damaging	Het
Fbxl7	A	T	15: 26,543,193 (GRCm38)	L456Q	probably damaging	Het
Fbxo38	A	G	18: 62,515,418 (GRCm38)	I683T	probably damaging	Het
Foxc2	G	T	8: 121,116,625 (GRCm38)	R4L	probably damaging	Het
Glyctk	C	T	9: 106,157,532 (GRCm38)	V112I	probably benign	Het
Gm4981	A	G	10: 58,235,780 (GRCm38)	V204A	probably benign	Het
Guf1	G	T	5: 69,568,460 (GRCm38)	G481*	probably null	Het
Heatr1	T	C	13: 12,403,159 (GRCm38)	L324S	probably damaging	Het
Hectd1	A	G	12: 51,806,567 (GRCm38)	L57P	probably damaging	Het
Hmcn1	A	T	1: 150,657,193 (GRCm38)	C3080S	probably damaging	Het
Hsh2d	G	A	8: 72,200,460 (GRCm38)	D229N	probably benign	Het
Ifit1	T	A	19: 34,647,544 (GRCm38)	F27I	probably benign	Het
Ift20	G	T	11: 78,540,034 (GRCm38)	E68*	probably null	Het
Itsn1	A	G	16: 91,889,154 (GRCm38)		probably benign	Het
Ksr2	T	A	5: 117,414,941 (GRCm38)	L38Q	probably damaging	Het
Lama2	A	T	10: 27,031,082 (GRCm38)	M2361K	possibly damaging	Het
Lrrc56	A	G	7: 141,207,508 (GRCm38)	M353V	probably benign	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261 (GRCm38)		probably null	Het
Map3k9	A	T	12: 81,724,482 (GRCm38)	S800R	possibly damaging	Het
Mef2a	A	G	7: 67,266,018 (GRCm38)	S179P	probably damaging	Het
Micall1	A	G	15: 79,122,945 (GRCm38)		probably benign	Het
Mpg	A	G	11: 32,231,957 (GRCm38)		probably null	Het
Mpp7	A	T	18: 7,350,967 (GRCm38)	*577K	probably null	Het
Msh4	G	T	3: 153,905,880 (GRCm38)	H35Q	probably benign	Het
Mst1	G	A	9: 108,084,346 (GRCm38)	V601I	probably benign	Het
Myh10	T	A	11: 68,745,413 (GRCm38)	N246K	probably benign	Het
Myom3	C	A	4: 135,779,396 (GRCm38)	N493K	probably benign	Het
Mypn	T	C	10: 63,146,190 (GRCm38)	D537G	probably benign	Het
Ncan	A	T	8: 70,115,348 (GRCm38)	M38K	possibly damaging	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm38)	H277Q	probably benign	Het
Nos1	A	T	5: 117,905,462 (GRCm38)	N601Y	possibly damaging	Het
Nrxn2	G	A	19: 6,488,795 (GRCm38)	V794I	probably benign	Het
Olfr1099	T	C	2: 86,959,081 (GRCm38)	I126V	probably damaging	Het
Olfr1390	T	C	11: 49,341,384 (GRCm38)	L284P	probably damaging	Het
Olfr1495	T	A	19: 13,768,724 (GRCm38)	Y127*	probably null	Het
Olfr156	A	T	4: 43,820,779 (GRCm38)	I194N	possibly damaging	Het
Olfr45	T	A	7: 140,691,658 (GRCm38)	V251E	possibly damaging	Het
Parp4	T	C	14: 56,648,915 (GRCm38)	V1817A	unknown	Het
Pfdn1	C	A	18: 36,451,100 (GRCm38)	M60I	probably benign	Het
Ppp1r3c	T	C	19: 36,733,611 (GRCm38)	N253S	probably damaging	Het
Prdm5	A	G	6: 65,831,279 (GRCm38)	I42V	probably benign	Het
Prom2	T	G	2: 127,541,097 (GRCm38)	Q75P	probably damaging	Het
Ptpn23	T	C	9: 110,388,870 (GRCm38)	D669G	possibly damaging	Het
Rag1	T	C	2: 101,644,062 (GRCm38)	D245G	probably benign	Het
Rpl22l1	T	A	3: 28,806,598 (GRCm38)		probably null	Het
Sars2	T	C	7: 28,744,312 (GRCm38)	V113A	probably damaging	Het
Sbno2	T	A	10: 80,058,639 (GRCm38)	K1067*	probably null	Het
Sec61g	A	G	11: 16,506,371 (GRCm38)		probably null	Het
Slc4a11	A	T	2: 130,688,012 (GRCm38)	M282K	probably benign	Het
Slc5a4a	T	C	10: 76,166,735 (GRCm38)	S242P	probably benign	Het
Sparc	A	T	11: 55,406,508 (GRCm38)		probably null	Het
Thra	T	A	11: 98,756,151 (GRCm38)	C33S	probably damaging	Het
Tmem2	T	C	19: 21,847,977 (GRCm38)	V1213A	possibly damaging	Het
Trrap	A	T	5: 144,830,951 (GRCm38)	T2293S	probably benign	Het
Ttn	T	A	2: 76,894,645 (GRCm38)		probably benign	Het
Vat1l	T	A	8: 114,271,301 (GRCm38)	V195E	probably damaging	Het
Vmn1r60	T	A	7: 5,544,550 (GRCm38)	I184F	possibly damaging	Het
Wdfy4	A	G	14: 33,103,983 (GRCm38)	I1192T	probably damaging	Het
Zbtb10	T	C	3: 9,280,386 (GRCm38)	S737P	possibly damaging	Het
Zfp553	A	G	7: 127,235,345 (GRCm38)	E24G	probably benign	Het
Zscan30	A	G	18: 23,971,467 (GRCm38)		noncoding transcript	Het

Other mutations in C4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:C4b	APN	17	34,734,428 (GRCm38)	missense	probably damaging	1.00
IGL00433:C4b	APN	17	34,742,041 (GRCm38)	missense	possibly damaging	0.75
IGL00471:C4b	APN	17	34,734,429 (GRCm38)	missense	probably damaging	1.00
IGL00515:C4b	APN	17	34,728,891 (GRCm38)	missense	probably damaging	1.00
IGL01599:C4b	APN	17	34,743,019 (GRCm38)	splice site	probably benign
IGL01761:C4b	APN	17	34,739,938 (GRCm38)	missense	possibly damaging	0.56
IGL02004:C4b	APN	17	34,739,010 (GRCm38)	unclassified	probably benign
IGL02215:C4b	APN	17	34,734,491 (GRCm38)	missense	probably damaging	1.00
IGL02517:C4b	APN	17	34,734,408 (GRCm38)	missense	probably benign	0.01
IGL02926:C4b	APN	17	34,730,712 (GRCm38)	missense	possibly damaging	0.95
IGL03031:C4b	APN	17	34,731,130 (GRCm38)	missense	possibly damaging	0.47
IGL03057:C4b	APN	17	34,737,764 (GRCm38)	unclassified	probably benign
IGL03165:C4b	APN	17	34,739,955 (GRCm38)	missense	probably benign	0.13
IGL03380:C4b	APN	17	34,740,286 (GRCm38)	missense	probably benign	0.01
Aspiration	UTSW	17	34,734,442 (GRCm38)	missense	probably benign	0.00
Inspiration	UTSW	17	34,732,166 (GRCm38)	splice site	probably null
Peroration	UTSW	17	34,729,399 (GRCm38)	critical splice donor site	probably null
perspiration	UTSW	17	34,729,831 (GRCm38)	missense	probably damaging	1.00
FR4548:C4b	UTSW	17	34,740,997 (GRCm38)	missense	probably benign	0.00
PIT4142001:C4b	UTSW	17	34,733,701 (GRCm38)	missense	probably benign	0.01
R0064:C4b	UTSW	17	34,738,856 (GRCm38)	missense	probably damaging	1.00
R0113:C4b	UTSW	17	34,741,240 (GRCm38)	missense	probably damaging	0.98
R0143:C4b	UTSW	17	34,734,219 (GRCm38)	unclassified	probably benign
R0254:C4b	UTSW	17	34,734,776 (GRCm38)	missense	probably benign	0.00
R0320:C4b	UTSW	17	34,733,161 (GRCm38)	missense	probably benign	0.01
R0391:C4b	UTSW	17	34,735,614 (GRCm38)	splice site	probably benign
R0399:C4b	UTSW	17	34,728,869 (GRCm38)	missense	probably damaging	1.00
R0467:C4b	UTSW	17	34,736,127 (GRCm38)	missense	probably benign	0.01
R0549:C4b	UTSW	17	34,735,415 (GRCm38)	missense	probably damaging	1.00
R0561:C4b	UTSW	17	34,734,417 (GRCm38)	missense	probably damaging	0.99
R0662:C4b	UTSW	17	34,730,888 (GRCm38)	missense	probably damaging	1.00
R0941:C4b	UTSW	17	34,740,055 (GRCm38)	missense	probably benign
R1161:C4b	UTSW	17	34,729,593 (GRCm38)	missense	probably damaging	1.00
R1169:C4b	UTSW	17	34,742,972 (GRCm38)	missense	probably benign	0.14
R1186:C4b	UTSW	17	34,736,309 (GRCm38)	missense	possibly damaging	0.47
R1310:C4b	UTSW	17	34,729,593 (GRCm38)	missense	probably damaging	1.00
R1398:C4b	UTSW	17	34,730,719 (GRCm38)	unclassified	probably benign
R1472:C4b	UTSW	17	34,743,769 (GRCm38)	nonsense	probably null
R1496:C4b	UTSW	17	34,740,021 (GRCm38)	missense	probably benign	0.30
R1544:C4b	UTSW	17	34,738,967 (GRCm38)	missense	probably benign	0.13
R1588:C4b	UTSW	17	34,741,025 (GRCm38)	missense	probably benign
R1645:C4b	UTSW	17	34,740,597 (GRCm38)	missense	probably damaging	1.00
R1664:C4b	UTSW	17	34,732,978 (GRCm38)	missense	probably damaging	1.00
R1678:C4b	UTSW	17	34,743,650 (GRCm38)	missense	probably benign	0.05
R1710:C4b	UTSW	17	34,743,664 (GRCm38)	splice site	probably benign
R1713:C4b	UTSW	17	34,729,271 (GRCm38)	splice site	probably benign
R1770:C4b	UTSW	17	34,736,927 (GRCm38)	missense	possibly damaging	0.78
R1924:C4b	UTSW	17	34,729,657 (GRCm38)	missense	probably damaging	1.00
R2057:C4b	UTSW	17	34,728,620 (GRCm38)	missense	probably damaging	1.00
R2060:C4b	UTSW	17	34,736,101 (GRCm38)	missense	probably damaging	1.00
R2184:C4b	UTSW	17	34,737,702 (GRCm38)	missense	probably benign	0.27
R2306:C4b	UTSW	17	34,728,518 (GRCm38)	missense	probably benign	0.00
R2363:C4b	UTSW	17	34,736,058 (GRCm38)	splice site	probably benign
R2365:C4b	UTSW	17	34,736,058 (GRCm38)	splice site	probably benign
R2379:C4b	UTSW	17	34,735,743 (GRCm38)	missense	possibly damaging	0.81
R2860:C4b	UTSW	17	34,734,758 (GRCm38)	missense	probably damaging	0.99
R2861:C4b	UTSW	17	34,734,758 (GRCm38)	missense	probably damaging	0.99
R3551:C4b	UTSW	17	34,741,872 (GRCm38)	missense	possibly damaging	0.75
R3765:C4b	UTSW	17	34,729,840 (GRCm38)	missense	probably damaging	0.98
R4157:C4b	UTSW	17	34,742,855 (GRCm38)	missense	probably damaging	1.00
R4299:C4b	UTSW	17	34,731,144 (GRCm38)	missense	possibly damaging	0.52
R4365:C4b	UTSW	17	34,734,743 (GRCm38)	missense	possibly damaging	0.65
R4411:C4b	UTSW	17	34,728,864 (GRCm38)	missense	probably damaging	1.00
R4613:C4b	UTSW	17	34,734,551 (GRCm38)	missense	probably benign	0.12
R4784:C4b	UTSW	17	34,733,406 (GRCm38)	missense	probably benign	0.00
R4790:C4b	UTSW	17	34,734,143 (GRCm38)	missense	probably benign	0.01
R4831:C4b	UTSW	17	34,736,890 (GRCm38)	splice site	probably null
R4879:C4b	UTSW	17	34,743,647 (GRCm38)	missense	probably damaging	0.99
R5036:C4b	UTSW	17	34,740,445 (GRCm38)	critical splice acceptor site	probably null
R5361:C4b	UTSW	17	34,741,238 (GRCm38)	missense	probably benign	0.15
R5384:C4b	UTSW	17	34,737,661 (GRCm38)	missense	possibly damaging	0.89
R5518:C4b	UTSW	17	34,734,442 (GRCm38)	missense	probably benign	0.00
R5590:C4b	UTSW	17	34,740,335 (GRCm38)	missense	probably damaging	0.98
R5643:C4b	UTSW	17	34,742,417 (GRCm38)	missense	probably benign	0.01
R5644:C4b	UTSW	17	34,742,417 (GRCm38)	missense	probably benign	0.01
R5833:C4b	UTSW	17	34,730,673 (GRCm38)	missense	probably damaging	1.00
R5931:C4b	UTSW	17	34,729,193 (GRCm38)	missense	probably damaging	0.99
R6178:C4b	UTSW	17	34,733,406 (GRCm38)	missense	probably benign	0.00
R6209:C4b	UTSW	17	34,741,087 (GRCm38)	missense	possibly damaging	0.93
R6225:C4b	UTSW	17	34,738,874 (GRCm38)	missense	possibly damaging	0.64
R6518:C4b	UTSW	17	34,734,205 (GRCm38)	missense	probably damaging	0.98
R6613:C4b	UTSW	17	34,733,565 (GRCm38)	missense	probably damaging	0.99
R6781:C4b	UTSW	17	34,742,954 (GRCm38)	missense	probably damaging	0.99
R6807:C4b	UTSW	17	34,730,956 (GRCm38)	missense	probably benign	0.17
R6858:C4b	UTSW	17	34,729,831 (GRCm38)	missense	probably damaging	1.00
R6962:C4b	UTSW	17	34,732,166 (GRCm38)	splice site	probably null
R7068:C4b	UTSW	17	34,733,477 (GRCm38)	missense	probably damaging	1.00
R7081:C4b	UTSW	17	34,735,443 (GRCm38)	missense	probably benign	0.27
R7105:C4b	UTSW	17	34,730,911 (GRCm38)	missense	possibly damaging	0.52
R7211:C4b	UTSW	17	34,735,534 (GRCm38)	missense	possibly damaging	0.92
R7296:C4b	UTSW	17	34,743,659 (GRCm38)	missense	probably damaging	1.00
R7314:C4b	UTSW	17	34,740,356 (GRCm38)	missense	probably benign
R7330:C4b	UTSW	17	34,730,472 (GRCm38)	missense	probably damaging	1.00
R7397:C4b	UTSW	17	34,742,390 (GRCm38)	missense	possibly damaging	0.80
R7437:C4b	UTSW	17	34,734,733 (GRCm38)	missense	probably benign	0.10
R7490:C4b	UTSW	17	34,731,080 (GRCm38)	nonsense	probably null
R7597:C4b	UTSW	17	34,739,675 (GRCm38)	missense	probably benign
R7633:C4b	UTSW	17	34,729,399 (GRCm38)	critical splice donor site	probably null
R7900:C4b	UTSW	17	34,739,777 (GRCm38)	missense	probably benign	0.03
R7910:C4b	UTSW	17	34,740,352 (GRCm38)	missense	probably benign	0.00
R7923:C4b	UTSW	17	34,742,380 (GRCm38)	missense	probably damaging	1.00
R7960:C4b	UTSW	17	34,741,278 (GRCm38)	splice site	probably null
R8420:C4b	UTSW	17	34,734,539 (GRCm38)	missense	probably damaging	0.97
R8467:C4b	UTSW	17	34,732,813 (GRCm38)	missense	possibly damaging	0.51
R8558:C4b	UTSW	17	34,736,567 (GRCm38)	missense	probably damaging	1.00
R8725:C4b	UTSW	17	34,734,485 (GRCm38)	missense	probably damaging	1.00
R8727:C4b	UTSW	17	34,734,485 (GRCm38)	missense	probably damaging	1.00
R8853:C4b	UTSW	17	34,729,905 (GRCm38)	missense	possibly damaging	0.91
R8934:C4b	UTSW	17	34,732,984 (GRCm38)	missense	possibly damaging	0.78
R8944:C4b	UTSW	17	34,742,939 (GRCm38)	missense	probably benign	0.00
R8960:C4b	UTSW	17	34,733,918 (GRCm38)	missense	probably damaging	1.00
R8982:C4b	UTSW	17	34,734,364 (GRCm38)	critical splice donor site	probably null
R9104:C4b	UTSW	17	34,729,259 (GRCm38)	missense	probably benign	0.39
R9114:C4b	UTSW	17	34,729,430 (GRCm38)	missense	probably damaging	0.99
R9348:C4b	UTSW	17	34,733,185 (GRCm38)	missense	probably benign	0.01
R9428:C4b	UTSW	17	34,730,911 (GRCm38)	missense	possibly damaging	0.52
R9533:C4b	UTSW	17	34,737,724 (GRCm38)	nonsense	probably null
R9591:C4b	UTSW	17	34,738,955 (GRCm38)	missense	probably benign	0.00
R9678:C4b	UTSW	17	34,741,789 (GRCm38)	critical splice donor site	probably null
Z1176:C4b	UTSW	17	34,731,147 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- TGTTAAATGGCTGGGAGTCC -3'
(R):5'- ATGATGTGGCTGTGAGACCG -3'

Sequencing Primer
(F):5'- CGGGGTGGCTAGATTTCCAG -3'
(R):5'- GTAGGGGAGCCTGAGCATC -3'

Posted On

2014-06-23